Linked Data
ClinVar Variation Id:
1218644
ClinVar RCV Id:
RCV001592486
dbSNP Id:
rs137998844
gnomAD v2:
12-49375566-A-G
gnomAD v3:
12-48981783-A-G
gnomAD v4:
12-48981783-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981783A>G , CM000674.2:g.48981783A>G | GRCh38 |
| NC_000012.11:g.49375566A>G , CM000674.1:g.49375566A>G | GRCh37 |
| NC_000012.10:g.47661833A>G | NCBI36 |
| NG_033141.1:g.8331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*143A>G MANE Select | ENSP00000293549.3:n.*143A>G | |
| NM_005430.3:c.*143A>G | NP_005421.1:n.*143A>G | |
| NM_005430.4:c.*143A>G MANE Select | NP_005421.1:n.*143A>G |